Porphyria cutanea tarda is described as a light-sensitive skin condition2,3. With the disease, also comes a large amount of uroporphyrin excretion in the urinary system2. There are two types of porphyria which are the sporadic and familial type4. The sporadic type is classified by high levels of uroporphyrinogen in the liver whereas the familial type has a fifty percent deficiency of that exact enzyme. Porphyria is an autosomal dominant disorder that occurs in adults and children1,3. There are several factors that can induce this condition such as iron overload, aromatic chemicals, estrogens, HIV, hepatitis C, and mutation in the HFE gene2,4.
There will be an initial onset of light sensitivity later in the adult life along with large excretions of uroporphyrin in the urine for the sporadic type1,5. Other things that can occur on the skin are hyperpigmentation and hypertrichosis, and mechanical fragility is also a high risk3,5. The sporadic form can be associated with alcoholism and occasionally with exposure to agents such as estrogens3,4. There is an overload of iron that is present and this may be associated with liver damage or fibrosis1. The congenital form, also known as familial form, is associated with the deficiency of an enzyme called uroporphyrinogen III cosynthase1. The hepatoerythropoietic porphyria is a very severe, autosomal recessive form of porphyria that develops in infancy and is characterized by excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes1,3,5.
With the familial form of porphyria there is reduced liver and red cell uroporphyrinogen decarboxylase activity and the sporadic forms of porph...
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... Porphyrias. Lancet. 2010; 375(9718):924-937.
2. Wahlin S, Harper P, Sardh E, Andersson C, Andersson DE, Ericzon BG. Combined liver and kidney transplantation in acute intermittent porphyria. Transpl Int. 2010;23(6):e18-e21.
3. Dowman JK, Gunson BK, Mirza DF, Bramhall SR, Badminton MN, Newsome PN. Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. Liver Transpl. 2012;18(2):195-200.
4. Sarkany RP, Ibbotson SH, Whatley SD, et al. Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria. J Invest Dermatol. 2011;131(5):1172-1175.
5. Wahlin S, Floderus Y, Stal P, Harper P. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. J Intern Med. 2011;269(3):278-288.
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